ClinVar Miner

Submissions for variant NM_000208.2:c.[1465A>G;3160G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Research Institute,Tokyo Medical and Dental University RCV000496626 SCV000503037 pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans 2014-06-02 no assertion criteria provided research Patient, a 15 year-old girl, showed hypertrichosis, acanthosis nigricans, and clitoromegaly. She had severe insulin resistance. This mutation was confirmed compound heterozygosity.

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